LDH info

Canonical Allele Identifier: CA16041398
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371217
ClinVar RCV Id: RCV000409693
dbSNP Id: rs1057517097

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108272799dup , CM000673.2:g.108272799dup GRCh38
NC_000011.9:g.108143526dup , CM000673.1:g.108143526dup GRCh37
NC_000011.8:g.107648736dup NCBI36
NG_009830.1:g.54968dup , LRG_135:g.54968dup

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.3231dup , LRG_135t1:c.3231dup NP_000042.3:p.Leu1078SerfsTer3
XM_005271561.3:c.3231dup XP_005271618.2:p.Leu1078SerfsTer3
XM_005271562.3:c.3231dup XP_005271619.2:p.Leu1078SerfsTer3
XM_006718843.2:c.3231dup XP_006718906.1:p.Leu1078SerfsTer3
XM_011542840.1:c.3231dup XP_011541142.1:p.Leu1078SerfsTer3
XM_011542841.1:c.3231dup XP_011541143.1:p.Leu1078SerfsTer3
XM_011542842.1:c.3066dup XP_011541144.1:p.Leu1023SerfsTer3
XM_011542843.1:c.3231dup XP_011541145.1:p.Leu1078SerfsTer3
XM_011542844.1:c.2187dup XP_011541146.1:p.Leu730SerfsTer3
XM_011542845.1:c.1923dup XP_011541147.1:p.Leu642SerfsTer3
XM_011542846.1:c.3231dup XP_011541148.1:p.Leu1078SerfsTer3
NM_001351834.1:c.3231dup VV NP_001338763.1:p.Leu1078SerfsTer3
XM_005271562.5:c.3231dup XP_005271619.2:p.Leu1078SerfsTer3
XM_006718843.4:c.3231dup XP_006718906.1:p.Leu1078SerfsTer3
XM_011542840.3:c.3231dup XP_011541142.1:p.Leu1078SerfsTer3
XM_011542842.3:c.3066dup XP_011541144.1:p.Leu1023SerfsTer3
XM_011542843.2:c.3231dup XP_011541145.1:p.Leu1078SerfsTer3
XM_011542844.3:c.2187dup XP_011541146.1:p.Leu730SerfsTer3
XM_011542845.2:c.1923dup XP_011541147.1:p.Leu642SerfsTer3
XM_017017789.2:c.3231dup XP_016873278.1:p.Leu1078SerfsTer3
XM_017017790.2:c.3231dup XP_016873279.1:p.Leu1078SerfsTer3
XM_017017791.1:c.3231dup XP_016873280.1:p.Leu1078SerfsTer3
XM_017017792.2:c.3231dup XP_016873281.1:p.Leu1078SerfsTer3
XR_002957150.1:n.3964dup
NM_001351834.2:c.3231dup VV NP_001338763.1:p.Leu1078SerfsTer3
ENST00000278616.8:c.3231dup ENSP00000278616.4:p.Leu1078SerfsTer3
ENST00000452508.6:c.3231dup ENSP00000388058.2:p.Leu1078SerfsTer3
ENST00000527805.5:c.3231dup ENSP00000435747.1:p.Leu1078SerfsTer3